Term Name: Loeys-Dietz syndrome 3
Synonyms: aneurysms-osteoarthritis syndrome, LDS1C, LDS3, Loeys-Dietz syndrome type 1C, Loeys-Dietz syndrome with osteoarthritis
Definition: A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the SMAD3 gene on chromosome 15q.
Ontology: Human Disease [DOID:0070237]   ( DOID:0070237 )

Relationships
is a type of: Loeys-Dietz syndrome